Generation of heterozygous SAMD9 CRISPR/Cas9-edited iPSC line (ESi086-A-3), carrying p.I1567M mutation

Stem Cell Res. 2022 Oct:64:102906. doi: 10.1016/j.scr.2022.102906. Epub 2022 Sep 3.

Abstract

Germline SAMD9 mutations are one of the most common alterations that predispose to pediatric myelodysplastic syndrome (MDS), a clonal disorder characterized by ineffective hematopoiesis, increasing the risk of developing acute myeloid leukemia (AML). Up to date, a disease model to study the role of SAMD9 mutation in MDS is still lacking. Here, we have generated a human induced pluripotent stem cell (hiPSC) line carrying SAMD9mut (p.I1567M), taking advantage of CRISPR/Cas9 system. As a result, the genetic engineered hiPSC line represent a new in vitro disease model to understand the impact of SAMD9 mutation at molecular and cellular level during hematopoiesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • CRISPR-Cas Systems / genetics
  • Child
  • Heterozygote
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Intracellular Signaling Peptides and Proteins / genetics
  • Leukemia, Myeloid, Acute* / genetics
  • Leukemia, Myeloid, Acute* / metabolism
  • Mutation / genetics
  • Myelodysplastic Syndromes* / genetics
  • Myelodysplastic Syndromes* / metabolism

Substances

  • SAMD9 protein, human
  • Intracellular Signaling Peptides and Proteins